R6P (p.Arg6Pro) variant of FGFR2 (P21802)
R6P (p.Arg6Pro) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs3750819
- ClinGen CA159662
- cosmic curated COSV60640
- ClinVar RCV000121060
- Benign/Likely benign
- Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.44
- CADD 21.60
- PolyPhen-2 0.42
- SIFT 0.20
- ClinVar: Benign/Likely benign (Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss synd)
- EBI: Benign (in dbSNP:rs3750819)
- UniProt: Benign (in dbSNP:rs3750819)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)