L36S (p.Leu36Ser) variant of RNF215 (RING finger protein 215)
L36S (p.Leu36Ser) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L36S (p.Leu36Ser) variant details
- p.Leu36Ser
- rs1289930194
- gnomAD 22-30374688-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 4.53
- SIFT 0.00
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available