P30L (p.Pro30Leu) variant of ERBB3 (P21860)
P30L (p.Pro30Leu) in ERBB3 (P21860) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs56017157
- ClinGen CA6621830
- ClinVar RCV000994933
- ClinVar RCV003962975
- Conflicting interpretations
- Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.10
- MetaLR 0.34
- MetaSVM -0.24
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Lethal congenital contracture syndrome 2; Visceral neuropathy, f)
- EBI: Benign (in dbSNP:rs56017157)
- UniProt: Benign (in dbSNP:rs56017157)
- Most common in the HGDP:KALASH population (allele frequency 0.048)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)