P21L (p.Pro21Leu) variant of MYLK (Q15746)
P21L (p.Pro21Leu) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- cosmic curated COSV60609
- 1000Genomes rs28497577
- ESP rs28497577
- ExAC rs28497577
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.11
- CADD 10.30
- PolyPhen-2 0.40
- SIFT 0.27
- EBI: Benign (in dbSNP:rs28497577)
- UniProt: Benign (in dbSNP:rs28497577)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available