K71R (p.Lys71Arg) variant of MYL2 (P10916)
K71R (p.Lys71Arg) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- gnomAD 12-110914248-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- MetaLR 0.34
- MetaSVM -0.50
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available